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Volumn 82, Issue 2, 1999, Pages 114-122

Family studies of infantile visceral myopathy: A congenital myopathic pseudo-obstruction syndrome

Author keywords

CIP; FVM; Genetic counseling; Megacystis; MMIHS; Myopathy; Prenatal diagnosis; Pseudo obstruction

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DOMINANT INHERITANCE; ETHNOLOGY; FAMILY STUDY; FEMALE; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; HUMAN; MALE; MYOPATHY; PARENTAL AGE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSEUDOOBSTRUCTION; SEX RATIO;

EID: 0033555997     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990115)82:2<114::AID-AJMG3>3.0.CO;2-H     Document Type: Article
Times cited : (11)

References (51)
  • 3
    • 0017590370 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome: A cause of intestinal obstruction in the newborn period
    • Amoury RA, Fellows RA, Goodwin CD, Hall RT, Holder TM, Ashcraft KW. 1977. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a cause of intestinal obstruction in the newborn period. J Pediatr Surg 12:1063-1065.
    • (1977) J Pediatr Surg , vol.12 , pp. 1063-1065
    • Amoury, R.A.1    Fellows, R.A.2    Goodwin, C.D.3    Hall, R.T.4    Holder, T.M.5    Ashcraft, K.W.6
  • 4
    • 0026075426 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: Clinical reports and review of the literature
    • Annerén G, Meuling S, Olsen L. 1991. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. Am J Med Genet 41:251-254.
    • (1991) Am J Med Genet , vol.41 , pp. 251-254
    • Annerén, G.1    Meuling, S.2    Olsen, L.3
  • 8
    • 0017158292 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome: A new cause of intestinal obstruction in the newborn. Report of radiologic findings in 5 newborn girls
    • Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C. 1976. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in 5 newborn girls. Am J Roentgenol 126:957-964.
    • (1976) Am J Roentgenol , vol.126 , pp. 957-964
    • Berdon, W.E.1    Baker, D.H.2    Blanc, W.A.3    Gay, B.4    Santulli, T.V.5    Donovan, C.6
  • 9
    • 0017327165 scopus 로고
    • Chronic idiopathic intestinal pseudo-obstruction syndrome in children: Clinical characteristics and prognosis
    • Byrne WJ, Cipel L, Euler AR, Hapin TC, Ament ME. 1977. Chronic idiopathic intestinal pseudo-obstruction syndrome in children: clinical characteristics and prognosis. J Pediatr 90:585-589.
    • (1977) J Pediatr , vol.90 , pp. 585-589
    • Byrne, W.J.1    Cipel, L.2    Euler, A.R.3    Hapin, T.C.4    Ament, M.E.5
  • 10
    • 0023927307 scopus 로고
    • Chronic idiopathic intestinal pseudo-obstruction and ophthalmoplegia in a patient with mitochondrial myopathy
    • Cervera R, Bruix J, Bayes A, Blesa R, Illa I, Coll J, Garcia-Puges AM. 1988. Chronic idiopathic intestinal pseudo-obstruction and ophthalmoplegia in a patient with mitochondrial myopathy. Gut 29:544-547.
    • (1988) Gut , vol.29 , pp. 544-547
    • Cervera, R.1    Bruix, J.2    Bayes, A.3    Blesa, R.4    Illa, I.5    Coll, J.6    Garcia-Puges, A.M.7
  • 11
    • 0028902064 scopus 로고
    • Perinatal lethal osteogenesis imperfecta
    • Cole WG, Dagleish R. 1995. Perinatal lethal osteogenesis imperfecta. J Med Genet 32:284-289.
    • (1995) J Med Genet , vol.32 , pp. 284-289
    • Cole, W.G.1    Dagleish, R.2
  • 13
    • 0026460666 scopus 로고
    • Gastric antral dysrhythmias in children with chronic idiopathic intestinal pseudo-obstruction
    • Devane SP, Ravelli AM, Bisset WM, Smith VV, Lake BD, Milla PJ. 1992. Gastric antral dysrhythmias in children with chronic idiopathic intestinal pseudo-obstruction. Gut 33:1477-1481.
    • (1992) Gut , vol.33 , pp. 1477-1481
    • Devane, S.P.1    Ravelli, A.M.2    Bisset, W.M.3    Smith, V.V.4    Lake, B.D.5    Milla, P.J.6
  • 14
    • 0023906483 scopus 로고
    • Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome
    • Farrell SA. 1988. Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome. J Med Genet 25:350-351.
    • (1988) J Med Genet , vol.25 , pp. 350-351
    • Farrell, S.A.1
  • 17
    • 0031038238 scopus 로고    scopus 로고
    • Autosomal recessive sorsby fundus dystrophy revisited: Molecular evidence for dominant inheritance
    • Felbor U, Suvanto EA, Forsius HR, Eriksson AW, Weber BF. 1997. Autosomal recessive sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am J Hum Genet 60:57-62.
    • (1997) Am J Hum Genet , vol.60 , pp. 57-62
    • Felbor, U.1    Suvanto, E.A.2    Forsius, H.R.3    Eriksson, A.W.4    Weber, B.F.5
  • 18
    • 0023469725 scopus 로고
    • Familial visceral myopathy: Evidence of diffuse involvement of intestinal smooth muscle
    • Fitzgibbons PL, Chandrasoma PT. 1987. Familial visceral myopathy: evidence of diffuse involvement of intestinal smooth muscle. Am J Surg Pathol 11:846-854.
    • (1987) Am J Surg Pathol , vol.11 , pp. 846-854
    • Fitzgibbons, P.L.1    Chandrasoma, P.T.2
  • 19
    • 0018734512 scopus 로고
    • Intestinal pseudo-obstruction
    • Fletcher JP, Little JM. 1979. Intestinal pseudo-obstruction. Med J Aust 2:339-341.
    • (1979) Med J Aust , vol.2 , pp. 339-341
    • Fletcher, J.P.1    Little, J.M.2
  • 20
    • 0025007679 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings
    • Garber A, Shohat M, Sarti D. 1990. Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings. Prenatal Diagn 10:377-387.
    • (1990) Prenatal Diagn , vol.10 , pp. 377-387
    • Garber, A.1    Shohat, M.2    Sarti, D.3
  • 21
    • 0030745888 scopus 로고    scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome
    • Granata C, Puri P. 1997. Megacystis-microcolon-intestinal hypoperistalsis syndrome. J Pediatr Gastroenterol Nutr 25:12-19.
    • (1997) J Pediatr Gastroenterol Nutr , vol.25 , pp. 12-19
    • Granata, C.1    Puri, P.2
  • 22
    • 0026486228 scopus 로고
    • Familial hollow visceral myopathy with varying urological manifestations
    • Higman D, Peters P, Stewart M. 1992. Familial hollow visceral myopathy with varying urological manifestations. Br J Urol 70:435-438.
    • (1992) Br J Urol , vol.70 , pp. 435-438
    • Higman, D.1    Peters, P.2    Stewart, M.3
  • 26
    • 0018293186 scopus 로고
    • A case of familial visceral myopathy with atrophy and fibrosis of the longitudinal muscle layer of the entire small bowel
    • Jacobs E, Ardichvili D, Perissino A, Gottignies P, Hanssens JF. 1979. A case of familial visceral myopathy with atrophy and fibrosis of the longitudinal muscle layer of the entire small bowel. Gastroenterology 77:745-750.
    • (1979) Gastroenterology , vol.77 , pp. 745-750
    • Jacobs, E.1    Ardichvili, D.2    Perissino, A.3    Gottignies, P.4    Hanssens, J.F.5
  • 27
    • 0026537961 scopus 로고
    • Familial visceral myopathy: A family with involvement of four generations
    • Jones SC, Dixon MF, Lintott DJ, Axon ATR. 1992. Familial visceral myopathy: A family with involvement of four generations. Dig Dis Sci 37:464-469.
    • (1992) Dig Dis Sci , vol.37 , pp. 464-469
    • Jones, S.C.1    Dixon, M.F.2    Lintott, D.J.3    Axon, A.T.R.4
  • 28
    • 0021272418 scopus 로고
    • Megacystis, microcolon, intestinal hypoperistalsis syndrome: Possible pathogenesis
    • Kirtane J, Talwalker V, Dastur DK. 1984. Megacystis, microcolon, intestinal hypoperistalsis syndrome: possible pathogenesis. J Pediatr Surg 19:206-208.
    • (1984) J Pediatr Surg , vol.19 , pp. 206-208
    • Kirtane, J.1    Talwalker, V.2    Dastur, D.K.3
  • 29
    • 0028226794 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome: A case report supporting autosomal recessive inheritance
    • McNamara HM, Onwude JL, Thornton JG. 1994. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report supporting autosomal recessive inheritance. Prenatal Diagn 14:153-154.
    • (1994) Prenatal Diagn , vol.14 , pp. 153-154
    • McNamara, H.M.1    Onwude, J.L.2    Thornton, J.G.3
  • 30
    • 0020554056 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: Common pathogenesis?
    • Oliveira G, Boechat MI, Ferreira MA. 1983. Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: Common pathogenesis? Pediatr Radiol 13: 294-296.
    • (1983) Pediatr Radiol , vol.13 , pp. 294-296
    • Oliveira, G.1    Boechat, M.I.2    Ferreira, M.A.3
  • 31
    • 0344090200 scopus 로고
    • Online Mendelian Inheritance in Man, OMIM. TM. Johns Hopkins University, Baltimore, MD. MIM Number:*155310:1994. Megaduodenum and/or megacystis. World Wide Web URL: http://www.ncbi.nlm.nih. gov/omim/
    • (1994) Megaduodenum and/or Megacystis
  • 32
    • 0344521292 scopus 로고
    • Online Mendelian Inheritance in Man, OMIM. TM. Johns Hopkins University, Baltimore, MD. MIM Number:*249210:1994. Megacystis-microcolon-intestinal hypoperistalsis syndrome. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
    • (1994) Megacystis-microcolon-intestinal Hypoperistalsis Syndrome
  • 34
    • 0344090199 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM. TM. Johns Hopkins University, Baltimore, MD. MIM Number: 130050:1996. Ehlers-Danlos syndrome, Type IV, autosomal dominant. World Wide Web URL: http:// www.ncbi.nlm.nih.gov/omim/
    • (1996) Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
  • 35
    • 0344090197 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM. TM. Johns Hopkins University, Baltimore, MD. MIM Number:142623:1996. Hirschsprung disease; HSCR. World Wide Web URL: http://www.ncbi.nlm.nih.gov/ omim/
    • (1996) Hirschsprung Disease; HSCR
  • 36
    • 0029044380 scopus 로고
    • Microcolon-intestinal hypoperistalsis without megacystis: Uncommon form of neonatal intestinal pseudo-obstruction
    • Özok G, Erdener A, Herek Ö, Tunçyurek M, Alkanat M, Gökdemir A. 1995. Microcolon-intestinal hypoperistalsis without megacystis: uncommon form of neonatal intestinal pseudo-obstruction. Eur J Pediatr Surg 5: 124-127.
    • (1995) Eur J Pediatr Surg , vol.5 , pp. 124-127
    • Özok, G.1    Erdener, A.2    Herek, Ö.3    Tunçyurek, M.4    Alkanat, M.5    Gökdemir, A.6
  • 37
    • 0024537890 scopus 로고
    • The megacystis-microcolon-intestinal hypoperistalsis syndrome: A fatal autosomal recessive condition
    • Penman DG, Lilford RJ. 1989. The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition. J Med Genet 26:66-67.
    • (1989) J Med Genet , vol.26 , pp. 66-67
    • Penman, D.G.1    Lilford, R.J.2
  • 38
    • 0020691821 scopus 로고
    • Megacystismicrocolon-intestinal hypoperistalsis syndrome: A visceral myopathy
    • Puri P, Lake BD, Gorman F, O'Donnell B, Nixon HH. 1983. Megacystismicrocolon-intestinal hypoperistalsis syndrome: a visceral myopathy. J Pediatr Surg 18:64-69.
    • (1983) J Pediatr Surg , vol.18 , pp. 64-69
    • Puri, P.1    Lake, B.D.2    Gorman, F.3    O'Donnell, B.4    Nixon, H.H.5
  • 39
    • 0021276448 scopus 로고
    • Megacystismicrocolon-intestinal hypoperistalsis syndrome: Case report and review of the literature
    • Redman JF, Jimenez JF, Golladay ES, Seibert JJ. 1984. Megacystismicrocolon-intestinal hypoperistalsis syndrome: case report and review of the literature. J Urol 131:981-983.
    • (1984) J Urol , vol.131 , pp. 981-983
    • Redman, J.F.1    Jimenez, J.F.2    Golladay, E.S.3    Seibert, J.J.4
  • 41
    • 0017397890 scopus 로고
    • Studies of idiopathic intestinal pseudo-obstruction. II: Hereditary hollow visceral myopathy: Family studies
    • Schuffler MD, Pope CE. 1977. Studies of idiopathic intestinal pseudo-obstruction. II: Hereditary hollow visceral myopathy: family studies. Gastroenterology 73:339-344.
    • (1977) Gastroenterology , vol.73 , pp. 339-344
    • Schuffler, M.D.1    Pope, C.E.2
  • 42
    • 0018108475 scopus 로고
    • First report of familial pseudo-obstruction
    • Schulze-Delrieu K. 1978. First report of familial pseudo-obstruction. Gastroenterology 75:1190-1191.
    • (1978) Gastroenterology , vol.75 , pp. 1190-1191
    • Schulze-Delrieu, K.1
  • 43
    • 0018573733 scopus 로고
    • A perspective for pediatric surgeon: Chronic idiopathic intestinal pseudo-obstruction
    • Shaw A, Shaffer H, Teja K, Kelly T, Grogan E, Bruni C. 1979. A perspective for pediatric surgeon: chronic idiopathic intestinal pseudo-obstruction. J Pediatr Surg 14:719-727.
    • (1979) J Pediatr Surg , vol.14 , pp. 719-727
    • Shaw, A.1    Shaffer, H.2    Teja, K.3    Kelly, T.4    Grogan, E.5    Bruni, C.6
  • 44
    • 0026050953 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome: Prenatal identification in siblings and review of the literature
    • Stamm E, King G, Thickman D. 1991. Megacystis-microcolon-intestinal hypoperistalsis syndrome: prenatal identification in siblings and review of the literature. J Ultrasound Med 10:599-602.
    • (1991) J Ultrasound Med , vol.10 , pp. 599-602
    • Stamm, E.1    King, G.2    Thickman, D.3
  • 46
    • 0021356051 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome
    • Vinograd I, Mogle P, Lernau OZ, Nissan S. 1984. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Arch Dis Child 59:169-171.
    • (1984) Arch Dis Child , vol.59 , pp. 169-171
    • Vinograd, I.1    Mogle, P.2    Lernau, O.Z.3    Nissan, S.4
  • 48
    • 0022544388 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome: Confirmation of autosomal recessive inheritance
    • Winter RM, Knowles SAS. 1986. Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. J Med Genet 23:360-362.
    • (1986) J Med Genet , vol.23 , pp. 360-362
    • Winter, R.M.1    Knowles, S.A.S.2
  • 50
    • 0024313413 scopus 로고
    • Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome
    • Young ID, McKeever PA, Brown LA, Lang GD. 1989. Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome. J Med Genet 26:403-406.
    • (1989) J Med Genet , vol.26 , pp. 403-406
    • Young, I.D.1    McKeever, P.A.2    Brown, L.A.3    Lang, G.D.4
  • 51
    • 0019407716 scopus 로고
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome: Additional clinical, radiologic, surgical, and histopathologic aspects
    • Young LW, Yunis EJ, Girdany BR, Sieber WK. 1981. Megacystis-microcolon-intestinal hypoperistalsis syndrome: additional clinical, radiologic, surgical, and histopathologic aspects. AJR Am J Roentgenol 137:749-755.
    • (1981) AJR Am J Roentgenol , vol.137 , pp. 749-755
    • Young, L.W.1    Yunis, E.J.2    Girdany, B.R.3    Sieber, W.K.4


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